Mutagenetix > Incidental Mutation

Incidental Mutation 'R7451:Pde11a'

577694

Institutional Source

Beutler Lab

Gene Symbol

Pde11a

Ensembl Gene

ENSMUSG00000075270

Gene Name

phosphodiesterase 11A

Synonyms

A630086N24Rik, 6330414F14Rik

MMRRC Submission

045525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R7451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75819485-76169118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75853117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 834 (V834I)

Ref Sequence

ENSEMBL: ENSMUSP00000097572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099992]

AlphaFold

P0C1Q2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099992
AA Change: V834I

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: V834I

Domain	Start	End	E-Value	Type
low complexity region	68	82	N/A	INTRINSIC
low complexity region	149	164	N/A	INTRINSIC
GAF	217	380	1.79e-30	SMART
GAF	402	568	2.34e-25	SMART
HDc	661	830	7.75e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144892

SMART Domains

Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270

Domain	Start	End	E-Value	Type
GAF	41	207	9.16e-19	SMART
HDc	269	438	2.04e-5	SMART

Meta Mutation Damage Score

0.1092

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (84/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have enlarged lateral ventricles and exhibit abnormal behavior. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,148,797 (GRCm39)	I794T	probably damaging	Het
Abcc5	T	A	16: 20,193,820 (GRCm39)	H767L	probably damaging	Het
Adgrb2	A	T	4: 129,908,350 (GRCm39)	M1031L	probably damaging	Het
Akna	T	A	4: 63,296,904 (GRCm39)	M891L	probably benign	Het
Aloxe3	C	A	11: 69,033,746 (GRCm39)	T620K	possibly damaging	Het
Amph	A	G	13: 19,261,538 (GRCm39)	Y63C	probably damaging	Het
Asprv1	A	G	6: 86,605,930 (GRCm39)	I259V	probably benign	Het
Atp7b	C	T	8: 22,504,700 (GRCm39)	W652*	probably null	Het
Atp8a2	C	T	14: 60,028,630 (GRCm39)	D946N	probably null	Het
BC024063	T	A	10: 81,944,576 (GRCm39)	N65K	probably benign	Het
Bean1	A	T	8: 104,940,628 (GRCm39)	M154L	probably benign	Het
Bltp1	G	T	3: 37,076,956 (GRCm39)		probably null	Het
Cacna1c	C	T	6: 118,570,981 (GRCm39)	V2181M	unknown	Het
Cacna1g	A	G	11: 94,319,901 (GRCm39)	I1425T	probably damaging	Het
Caskin2	A	G	11: 115,702,981 (GRCm39)		probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap97d1	A	T	11: 101,882,283 (GRCm39)	N147I	possibly damaging	Het
Cfd	T	A	10: 79,727,362 (GRCm39)	V43E	probably damaging	Het
Chd9	GCCCC	GCCC	8: 91,760,418 (GRCm39)		probably null	Het
Chd9	T	A	8: 91,760,446 (GRCm39)	S2064T	probably benign	Het
Cpsf2	T	G	12: 101,967,051 (GRCm39)	V646G	possibly damaging	Het
Ctif	T	C	18: 75,652,874 (GRCm39)	D461G	possibly damaging	Het
Cyp3a41a	T	A	5: 145,636,550 (GRCm39)	E414D	probably benign	Het
Dagla	A	G	19: 10,230,719 (GRCm39)	V544A	probably damaging	Het
Dhx57	A	T	17: 80,554,542 (GRCm39)	V1228E	probably damaging	Het
Eif2b3	T	A	4: 116,909,993 (GRCm39)	L176*	probably null	Het
Fbxw26	T	A	9: 109,561,691 (GRCm39)	I168L	probably benign	Het
Flt3	T	A	5: 147,286,477 (GRCm39)	Y703F	probably damaging	Het
Frmpd1	C	T	4: 45,279,558 (GRCm39)	P761L	probably benign	Het
Gabrd	A	G	4: 155,472,916 (GRCm39)	V89A	possibly damaging	Het
Galnt14	A	T	17: 73,881,804 (GRCm39)	H98Q	probably benign	Het
Gli3	T	C	13: 15,900,876 (GRCm39)	V1421A	possibly damaging	Het
Gprin2	A	G	14: 33,917,762 (GRCm39)	S3P	probably damaging	Het
Ifi211	T	G	1: 173,727,058 (GRCm39)	D362A	probably damaging	Het
Lars1	G	T	18: 42,335,615 (GRCm39)	T1167K	probably benign	Het
Lce1b	T	C	3: 92,563,207 (GRCm39)	S109G	unknown	Het
Lrp2	T	G	2: 69,343,677 (GRCm39)	E894A	probably damaging	Het
Mamdc4	A	G	2: 25,454,473 (GRCm39)	V1081A	possibly damaging	Het
Mcub	T	C	3: 129,710,752 (GRCm39)	S227G	possibly damaging	Het
Mki67	A	G	7: 135,301,080 (GRCm39)	I1318T	probably benign	Het
Mybl2	C	T	2: 162,914,626 (GRCm39)	T248I	possibly damaging	Het
Myo9b	A	T	8: 71,804,832 (GRCm39)	H1441L	probably benign	Het
Nav2	T	A	7: 49,202,577 (GRCm39)		probably null	Het
Neb	C	T	2: 52,091,466 (GRCm39)	V5339I	probably benign	Het
Nktr	T	A	9: 121,558,722 (GRCm39)	S88T	probably damaging	Het
Nup155	C	T	15: 8,175,091 (GRCm39)	Q963*	probably null	Het
Oas1c	A	C	5: 120,940,207 (GRCm39)	L320V	possibly damaging	Het
Or10ak14	C	T	4: 118,610,884 (GRCm39)	A286T	probably benign	Het
Or10d1b	G	A	9: 39,613,423 (GRCm39)	T214I	probably damaging	Het
Or1o11	C	A	17: 37,757,196 (GRCm39)	S261R	probably damaging	Het
Or2t46	A	G	11: 58,472,516 (GRCm39)	Y282C	probably damaging	Het
Or4a81	A	G	2: 89,619,453 (GRCm39)	M81T	probably benign	Het
Or52b4i	T	C	7: 102,191,461 (GRCm39)	I106T	probably benign	Het
Pcdhga7	A	G	18: 37,849,057 (GRCm39)	S355G	possibly damaging	Het
Pdzrn4	A	T	15: 92,667,948 (GRCm39)	D700V	possibly damaging	Het
Pif1	C	A	9: 65,495,630 (GRCm39)	P180Q	probably benign	Het
Pkig	G	T	2: 163,563,083 (GRCm39)	E5*	probably null	Het
Pla2r1	T	A	2: 60,365,346 (GRCm39)	M75L	probably damaging	Het
Pllp	T	C	8: 95,402,871 (GRCm39)	S157G	probably damaging	Het
Ppfia1	A	T	7: 144,061,947 (GRCm39)	H566Q	probably benign	Het
Ptpn13	A	G	5: 103,674,961 (GRCm39)	D646G	probably benign	Het
Rab11fip5	T	A	6: 85,318,538 (GRCm39)	T784S	probably benign	Het
Rad51ap2	T	G	12: 11,507,982 (GRCm39)	S635A	probably benign	Het
Ranbp17	A	T	11: 33,234,114 (GRCm39)		probably null	Het
Rce1	C	T	19: 4,675,081 (GRCm39)	G111D	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rimbp2	C	T	5: 128,865,435 (GRCm39)	V631I	probably benign	Het
Scai	T	C	2: 39,015,148 (GRCm39)	T94A	probably damaging	Het
Sfmbt1	G	A	14: 30,538,768 (GRCm39)	A796T	probably benign	Het
Slc6a11	C	A	6: 114,222,644 (GRCm39)	Y546*	probably null	Het
Slc7a2	T	C	8: 41,365,686 (GRCm39)	S506P	probably damaging	Het
Synj2	T	A	17: 6,080,066 (GRCm39)	N1098K	possibly damaging	Het
Tmem177	G	A	1: 119,837,971 (GRCm39)	A236V	probably damaging	Het
Togaram1	T	A	12: 65,043,749 (GRCm39)	D1249E	probably damaging	Het
Trav17	A	T	14: 54,044,096 (GRCm39)	M1L	probably damaging	Het
Trim25	C	A	11: 88,906,563 (GRCm39)	A433D	possibly damaging	Het
Trim69	T	C	2: 121,998,508 (GRCm39)	F160S	probably benign	Het
Trio	A	T	15: 27,747,999 (GRCm39)	V1407E	probably benign	Het
Trpm7	A	T	2: 126,668,657 (GRCm39)	M753K	probably damaging	Het
Ttc12	G	T	9: 49,383,179 (GRCm39)	A75E	probably benign	Het
Uchl4	A	T	9: 64,143,013 (GRCm39)	I165L	probably benign	Het
Uvrag	A	T	7: 98,790,120 (GRCm39)	L13Q	unknown	Het
Wwc2	G	A	8: 48,317,610 (GRCm39)	R656W	not run	Het

Other mutations in Pde11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Pde11a	APN	2	76,045,729 (GRCm39)	missense	probably damaging	1.00
IGL01528:Pde11a	APN	2	76,025,300 (GRCm39)	splice site	probably benign
IGL02117:Pde11a	APN	2	75,821,606 (GRCm39)	missense	probably damaging	1.00
IGL02428:Pde11a	APN	2	75,877,189 (GRCm39)	missense	possibly damaging	0.68
IGL02455:Pde11a	APN	2	75,988,737 (GRCm39)	missense	possibly damaging	0.58
IGL02731:Pde11a	APN	2	75,821,583 (GRCm39)	missense	probably benign	0.00
IGL03068:Pde11a	APN	2	75,848,208 (GRCm39)	missense	probably damaging	1.00
IGL03081:Pde11a	APN	2	75,906,274 (GRCm39)	splice site	probably benign
D4186:Pde11a	UTSW	2	76,121,634 (GRCm39)	missense	probably damaging	1.00
R0323:Pde11a	UTSW	2	75,877,118 (GRCm39)	splice site	probably null
R0433:Pde11a	UTSW	2	76,168,050 (GRCm39)	missense	possibly damaging	0.47
R1226:Pde11a	UTSW	2	75,988,698 (GRCm39)	missense	probably benign	0.10
R1542:Pde11a	UTSW	2	75,877,199 (GRCm39)	missense	probably benign	0.25
R1941:Pde11a	UTSW	2	76,121,594 (GRCm39)	missense	probably benign	0.10
R2107:Pde11a	UTSW	2	76,168,266 (GRCm39)	missense	probably damaging	1.00
R2394:Pde11a	UTSW	2	75,889,405 (GRCm39)	missense	probably benign	0.00
R3689:Pde11a	UTSW	2	76,121,510 (GRCm39)	missense	probably damaging	1.00
R3690:Pde11a	UTSW	2	76,121,510 (GRCm39)	missense	probably damaging	1.00
R3945:Pde11a	UTSW	2	75,906,275 (GRCm39)	splice site	probably benign
R4073:Pde11a	UTSW	2	76,168,242 (GRCm39)	missense	probably damaging	1.00
R4074:Pde11a	UTSW	2	76,168,242 (GRCm39)	missense	probably damaging	1.00
R4588:Pde11a	UTSW	2	75,859,647 (GRCm39)	missense	probably damaging	1.00
R4602:Pde11a	UTSW	2	75,988,677 (GRCm39)	missense	probably benign	0.05
R4604:Pde11a	UTSW	2	76,168,137 (GRCm39)	missense	possibly damaging	0.89
R4609:Pde11a	UTSW	2	76,121,585 (GRCm39)	missense	possibly damaging	0.94
R4610:Pde11a	UTSW	2	75,988,677 (GRCm39)	missense	probably benign	0.05
R5017:Pde11a	UTSW	2	75,966,711 (GRCm39)	missense	probably benign	0.05
R5519:Pde11a	UTSW	2	75,906,299 (GRCm39)	missense	probably damaging	1.00
R5930:Pde11a	UTSW	2	75,970,175 (GRCm39)	splice site	probably null
R6000:Pde11a	UTSW	2	75,848,204 (GRCm39)	missense	probably damaging	0.98
R6018:Pde11a	UTSW	2	75,848,194 (GRCm39)	missense	probably benign	0.00
R6913:Pde11a	UTSW	2	76,168,084 (GRCm39)	missense	probably damaging	1.00
R7117:Pde11a	UTSW	2	75,906,348 (GRCm39)	missense	probably damaging	1.00
R7258:Pde11a	UTSW	2	75,970,250 (GRCm39)	missense	possibly damaging	0.91
R7267:Pde11a	UTSW	2	76,168,189 (GRCm39)	missense	probably damaging	1.00
R7409:Pde11a	UTSW	2	75,836,328 (GRCm39)	missense
R7452:Pde11a	UTSW	2	75,966,758 (GRCm39)	missense	probably damaging	1.00
R7598:Pde11a	UTSW	2	75,966,767 (GRCm39)	missense	probably damaging	1.00
R7671:Pde11a	UTSW	2	76,045,697 (GRCm39)	missense	possibly damaging	0.81
R7886:Pde11a	UTSW	2	76,121,547 (GRCm39)	missense	probably benign
R8045:Pde11a	UTSW	2	75,853,072 (GRCm39)	missense	probably damaging	0.99
R8137:Pde11a	UTSW	2	76,041,383 (GRCm39)	missense	possibly damaging	0.91
R8420:Pde11a	UTSW	2	75,889,354 (GRCm39)	missense	probably damaging	1.00
R8716:Pde11a	UTSW	2	75,848,238 (GRCm39)	missense	probably damaging	0.97
R8730:Pde11a	UTSW	2	75,889,334 (GRCm39)	missense	probably damaging	1.00
R8816:Pde11a	UTSW	2	76,121,577 (GRCm39)	missense	probably benign	0.00
R8869:Pde11a	UTSW	2	76,041,434 (GRCm39)	missense	probably benign	0.02
R9023:Pde11a	UTSW	2	75,966,803 (GRCm39)	missense	probably damaging	1.00
R9202:Pde11a	UTSW	2	75,853,077 (GRCm39)	nonsense	probably null
R9301:Pde11a	UTSW	2	75,848,217 (GRCm39)	missense	probably damaging	1.00
R9470:Pde11a	UTSW	2	75,821,612 (GRCm39)	missense	probably benign
R9570:Pde11a	UTSW	2	75,877,157 (GRCm39)	missense	probably damaging	1.00
R9728:Pde11a	UTSW	2	76,121,608 (GRCm39)	missense	probably damaging	1.00
Z1176:Pde11a	UTSW	2	76,025,249 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGAGTTCTCCAGCCTTACC -3'
(R):5'- TGTCTTCAAATGATCCCGAGAACC -3'

Sequencing Primer
(F):5'- AGCCTTACCCCATTTCCAGCTATG -3'
(R):5'- AACAACCTGTTTAGTGTGACTGTG -3'

Posted On

2019-10-07